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About Desmosterolosis

What is Desmosterolosis?

Desmosterolosis is a rare genetic disorder caused by a deficiency of the enzyme desmosterol reductase. It is characterized by a wide range of symptoms, including skeletal abnormalities, intellectual disability, seizures, and vision and hearing loss. It is caused by mutations in the DHCR24 gene, which is responsible for producing the enzyme desmosterol reductase. Treatment is focused on managing the symptoms and may include physical therapy, speech therapy, and medications.

What are the symptoms of Desmosterolosis?

The symptoms of Desmosterolosis vary depending on the type of the disorder. Common symptoms include:

-Developmental delay
-Intellectual disability
-Movement disorders
-Growth retardation
-Hearing loss
-Vision problems
-Feeding difficulties
-Abnormal facial features
-Abnormalities of the hands and feet
-Heart defects
-Kidney problems
-Liver problems
-Skin abnormalities

What are the causes of Desmosterolosis?

Desmosterolosis is a rare genetic disorder caused by mutations in the DHCR24 gene. This gene is responsible for producing an enzyme called 24-dehydrocholesterol reductase, which is involved in the production of cholesterol. Mutations in this gene can lead to a buildup of desmosterol, a cholesterol-like molecule, in the body. This can cause a variety of symptoms, including intellectual disability, seizures, vision and hearing loss, and skeletal abnormalities.

What are the treatments for Desmosterolosis?

Desmosterolosis is a rare genetic disorder that affects the body's ability to process cholesterol. There is currently no cure for Desmosterolosis, but treatments are available to help manage the symptoms. These treatments include dietary changes, cholesterol-lowering medications, and lifestyle modifications. Additionally, physical therapy and occupational therapy may be recommended to help improve mobility and strength. In some cases, surgery may be necessary to correct physical deformities caused by the disorder.

What are the risk factors for Desmosterolosis?

The primary risk factor for Desmosterolosis is having a family history of the disorder. Other risk factors include being of Ashkenazi Jewish descent, being of Mediterranean descent, and having a mutation in the DHCR24 gene.

Is there a cure/medications for Desmosterolosis?

At this time, there is no known cure or medications for Desmosterolosis. Treatment focuses on managing the symptoms and complications of the condition. This may include physical therapy, occupational therapy, speech therapy, and dietary modifications.